Schöpf-Schulz-Passarge syndrome (SSPS)
نویسندگان
چکیده
منابع مشابه
Intra-familial variability of ectodermal defects associated with WNT10A mutations.
© 2011 The Authors. doi: 10.2340/00015555-1028 Journal Compilation © 2011 Acta Dermato-Venereologica. ISSN 0001-5555 WNT10A is a member of the wingless signalling pathway that has a fundamental role in skin and appendageal morphogenesis (1). Moreover, naturally occurring WNT10A gene mutations have been identified in the autosomal recessive human ectodermal dysplasia syndromes odonto-onycho-derm...
متن کاملOdonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation.
BACKGROUND Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles. The ectodermal dysplasias resulting from biallelic mutations in the WNT10A gene result in highly variable phenotypes, ranging from isolated tooth agenesis to O...
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This article describes the state of art of the research on the SSPS(Space Solar Power Station). Considering the SSPS is one of the promising clean and large-scale power source, a variety of fundamental technologies of MPT(microwave power transmission) have been developed in universities, national research institutes, space and electrical industries in Japan. SSPS system studies are also being c...
متن کاملInvolvement of and Interaction between WNT10A and EDA Mutations in Tooth Agenesis Cases in the Chinese Population
BACKGROUND Dental agenesis is the most common, often heritable, developmental anomaly in humans. Although WNT10A gene mutations are known to cause rare syndromes associated with tooth agenesis, including onycho-odontodermal dysplasia (OODD), Schöpf-Schulz-Passarge syndrome (SSPS), hypohidrotic ectodermal dysplasia (HED), and more than half of the cases of isolated oligodontia recently, the geno...
متن کاملCompressive acoustic sound speed profile estimation.
Ocean acoustic sound speed profile (SSP) estimation requires the inversion of acoustic fields using limited observations. Compressive sensing (CS) asserts that certain underdetermined problems can be solved in high resolution, provided their solutions are sparse. Here, CS is used to estimate SSPs in a range-independent shallow ocean by inverting a non-linear acoustic propagation model. It is sh...
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ژورنال
عنوان ژورنال: Atlas of Genetics and Cytogenetics in Oncology and Haematology
سال: 2012
ISSN: 1768-3262
DOI: 10.4267/2042/48372